Canonical Allele Identifier: CA2611199230

Gene: FGFR2

Linked Data

• gnomAD v4: 10-121517117-TTGATCATAAATGTGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121517120_121517135del , CM000672.2:g.121517120_121517135del	GRCh38
NC_000010.10:g.123276634_123276649del , CM000672.1:g.123276634_123276649del	GRCh37
NC_000010.9:g.123266624_123266639del	NCBI36
NG_012449.1:g.86326_86341del
NG_012449.2:g.86326_86341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000457416.7:c.1087+1549_1087+1564del MANE Plus Clinical	ENSP00000410294.2:n.1087+1549_1087+1564de...
ENST00000351936.11:c.1084+186_1084+201del	ENSP00000309878.10:n.1084+186_1084+201del...
ENST00000638709.2:c.-87+186_-87+201del	ENSP00000491912.2:n.-87+186_-87+201del
ENST00000682296.1:n.432+186_432+201del
ENST00000682550.1:c.739+186_739+201del	ENSP00000507633.1:n.739+186_739+201del
ENST00000682772.1:c.-87+186_-87+201del	ENSP00000506848.1:n.-87+186_-87+201del
ENST00000683211.1:c.1084+186_1084+201del	ENSP00000508257.1:n.1084+186_1084+201del
ENST00000683250.1:c.404-13192_404-13177del	ENSP00000506847.1:n.404-13192_404-13177de...
ENST00000683418.1:n.3431+186_3431+201del
ENST00000684153.1:c.739+186_739+201del	ENSP00000506937.1:n.739+186_739+201del
ENST00000358487.10:c.1084+186_1084+201del MANE Select	ENSP00000351276.6:n.1084+186_1084+201del
ENST00000336553.10:c.817+186_817+201del	ENSP00000337665.6:n.817+186_817+201del
ENST00000346997.6:c.1084+186_1084+201del	ENSP00000263451.5:n.1084+186_1084+201del
ENST00000351936.10:c.1090+186_1090+201del	ENSP00000309878.9:n.1090+186_1090+201del
ENST00000356226.8:c.739+186_739+201del	ENSP00000348559.4:n.739+186_739+201del
ENST00000357555.9:c.817+186_817+201del	ENSP00000350166.5:n.817+186_817+201del
ENST00000358487.9:c.1084+186_1084+201del	ENSP00000351276.5:n.1084+186_1084+201del
ENST00000360144.7:c.820+1549_820+1564del	ENSP00000353262.3:n.820+1549_820+1564del
ENST00000369056.5:c.1087+1549_1087+1564del	ENSP00000358052.1:n.1087+1549_1087+1564de...
ENST00000369058.7:c.1087+1549_1087+1564del	ENSP00000358054.3:n.1087+1549_1087+1564de...
ENST00000369059.5:c.742+1549_742+1564del	ENSP00000358055.1:n.742+1549_742+1564del
ENST00000369060.8:c.939+2846_939+2861del	ENSP00000358056.4:n.939+2846_939+2861del
ENST00000369061.8:c.749-1814_749-1799del	ENSP00000358057.4:n.749-1814_749-1799del
ENST00000457416.6:c.1087+1549_1087+1564del	ENSP00000410294.2:n.1087+1549_1087+1564de...
ENST00000463870.5:n.293+186_293+201del
ENST00000478859.5:c.400+186_400+201del	ENSP00000474011.1:n.400+186_400+201del
ENST00000604236.5:c.*131+186_*131+201del	ENSP00000474109.1:n.*131+186_*131+201del
ENST00000613048.4:c.817+186_817+201del	ENSP00000484154.1:n.817+186_817+201del
NM_000141.4:c.1084+186_1084+201del	NP_000132.3:n.1084+186_1084+201del
NM_001144913.1:c.1087+1549_1087+1564del	NP_001138385.1:n.1087+1549_1087+1564del
NM_001144914.1:c.749-1814_749-1799del	NP_001138386.1:n.749-1814_749-1799del
NM_001144915.1:c.817+186_817+201del	NP_001138387.1:n.817+186_817+201del
NM_001144916.1:c.739+186_739+201del	NP_001138388.1:n.739+186_739+201del
NM_001144917.1:c.939+2846_939+2861del	NP_001138389.1:n.939+2846_939+2861del
NM_001144918.1:c.739+186_739+201del	NP_001138390.1:n.739+186_739+201del
NM_001144919.1:c.820+1549_820+1564del	NP_001138391.1:n.820+1549_820+1564del
NM_022970.3:c.1087+1549_1087+1564del	NP_075259.4:n.1087+1549_1087+1564del
NM_023029.2:c.817+186_817+201del	NP_075418.1:n.817+186_817+201del
NR_073009.1:n.1534+186_1534+201del
XM_006717708.2:c.1144+1549_1144+1564del	XP_006717771.1:n.1144+1549_1144+1564del
XM_006717709.2:c.1141+186_1141+201del	XP_006717772.1:n.1141+186_1141+201del
XM_006717710.2:c.1144+1549_1144+1564del	XP_006717773.1:n.1144+1549_1144+1564del
XM_006717711.2:c.877+1549_877+1564del	XP_006717774.1:n.877+1549_877+1564del
XM_006717712.2:c.799+1549_799+1564del	XP_006717775.1:n.799+1549_799+1564del
XM_006717713.2:c.1141+186_1141+201del	XP_006717776.1:n.1141+186_1141+201del
XM_011539510.1:c.400+186_400+201del	XP_011537812.1:n.400+186_400+201del
NM_001320654.1:c.400+186_400+201del	NP_001307583.1:n.400+186_400+201del
NM_001320658.1:c.1084+186_1084+201del	NP_001307587.1:n.1084+186_1084+201del
XM_006717708.3:c.1144+1549_1144+1564del	XP_006717771.1:n.1144+1549_1144+1564del
XM_006717710.4:c.1144+1549_1144+1564del	XP_006717773.1:n.1144+1549_1144+1564del
XM_017015920.2:c.1144+1549_1144+1564del	XP_016871409.1:n.1144+1549_1144+1564del
XM_017015921.2:c.1141+186_1141+201del	XP_016871410.1:n.1141+186_1141+201del
XM_017015924.2:c.796+186_796+201del	XP_016871413.1:n.796+186_796+201del
XM_017015925.2:c.796+186_796+201del	XP_016871414.1:n.796+186_796+201del
XM_024447887.1:c.874+186_874+201del	XP_024303655.1:n.874+186_874+201del
XM_024447888.1:c.877+1549_877+1564del	XP_024303656.1:n.877+1549_877+1564del
XM_024447889.1:c.874+186_874+201del	XP_024303657.1:n.874+186_874+201del
XM_024447890.1:c.877+1549_877+1564del	XP_024303658.1:n.877+1549_877+1564del
XM_024447891.1:c.799+1549_799+1564del	XP_024303659.1:n.799+1549_799+1564del
XM_024447892.1:c.-87+186_-87+201del	XP_024303660.1:n.-87+186_-87+201del
NM_000141.5:c.1084+186_1084+201del MANE Select	NP_000132.3:n.1084+186_1084+201del
NM_001144917.2:c.939+2846_939+2861del	NP_001138389.1:n.939+2846_939+2861del
NM_001144918.2:c.739+186_739+201del	NP_001138390.1:n.739+186_739+201del
NM_001144919.2:c.820+1549_820+1564del	NP_001138391.1:n.820+1549_820+1564del
NM_001320658.2:c.1084+186_1084+201del	NP_001307587.1:n.1084+186_1084+201del
NR_073009.2:n.1520+186_1520+201del
NM_001144915.2:c.817+186_817+201del	NP_001138387.1:n.817+186_817+201del
NM_001144916.2:c.739+186_739+201del	NP_001138388.1:n.739+186_739+201del
NM_001320654.2:c.400+186_400+201del	NP_001307583.1:n.400+186_400+201del